NR AFMC
AU Holm,I.E.; Abelskov,K.; Bojsen-Moller,M.; Nielsen,A.L.; Jorgensen,A.L.
TI Creutzfeldt-Jakob disease segregating in a three generation Danish family
QU Acta Neurologica Scandinavica 2001 Mar; 103(3): 139-47
PT journal article
AB A three generation family is presented in which rapidly progressive, early-onset Creutzfeldt-Jakob disease without typical EEG changes segregates as an autosomal dominant disease. An aspartic acid to asparagine mutation at codon 178 of the prion gene, PRNP, co-segregates with the disease. As expected, the disease allele also carries the valine codon of the polymorphic valine/methionine codon 129 of the gene. In family members homozygous for this valine codon the disease was more rapidly progressive than in a heterozygous family member, who had a variant clinical phenotype. Definite neuropathological diagnosis required prion staining with specific antibodies.
MH Adult; Age of Onset; Aged; Aged, 80 and over; Alleles; Asparagine; Aspartic Acid; Creutzfeldt-Jakob Syndrome/*genetics/pathology; Disease Progression; Electroencephalography; Female; Hippocampus/pathology; Human; Immunohistochemistry; Magnetic Resonance Imaging; Male; Middle Age; Pedigree; Phenotype; *Point Mutation; Polymorphism (Genetics); Prions/*genetics/immunology; Support, Non-U.S. Gov't
AD Department of Pathology, Aarhus University Hospital, Denmark.
SP englisch
PO Dänemark